Canonical Allele Identifier: CA2578396272

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333059_128333061del , CM000667.2:g.128333059_128333061del	GRCh38
NC_000005.9:g.127668751_127668753del , CM000667.1:g.127668751_127668753del	GRCh37
NC_000005.8:g.127696650_127696652del	NCBI36
NG_008750.1:g.209988_209990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.884-22_884-20del
ENST00000703785.1:n.965-22_965-20del
ENST00000262464.9:c.4100-22_4100-20del MANE Select	ENSP00000262464.4:n.4100-22_4100-20del
ENST00000262464.8:c.4100-22_4100-20del	ENSP00000262464.4:n.4100-22_4100-20del
ENST00000507835.5:c.650-22_650-20del	ENSP00000426839.1:n.650-22_650-20del
ENST00000508053.5:c.4100-22_4100-20del	ENSP00000424571.1:n.4100-22_4100-20del
ENST00000508989.5:c.4001-22_4001-20del	ENSP00000425596.1:n.4001-22_4001-20del
ENST00000619499.4:c.4097-22_4097-20del	ENSP00000482132.1:n.4097-22_4097-20del
NM_001999.3:c.4100-22_4100-20del	NP_001990.2:n.4100-22_4100-20del
XM_017009228.2:c.3947-22_3947-20del	XP_016864717.1:n.3947-22_3947-20del
NM_001999.4:c.4100-22_4100-20del MANE Select	NP_001990.2:n.4100-22_4100-20del